Bilateral renal agenesis and Mullerian anomalies in a 47,XXX fetus.

Congenital absence of the kidneys (bilateral renal agenesis, BRA) is a genetically heterogeneous condition, and all modes of inheritance have been suggested as causes. The finding of a 47,XXX chromosome constitution in a fetus with BRA and developmental arrest of the mesonephric and paramesonephric systems raises the possibility that X chromosome trisomy also may cause the urogenital adysplasia sequence.

Nontraumatic avulsion of the lesser trochanter: a pathognomonic sign of metastatic disease?

Isolated avulsion fractures of the lesser trochanter resulting from trauma are most commonly seen in adolescent athletes and are rare in adults. Standard therapy is nonsurgical with bedrest and immobilization of the leg. However, when this lesion is seen in the adult without significant trauma, it should be regarded as secondary to metastatic neoplasm until proven otherwise. Treatment should be surgical with prophylactic internal fixation of the hip to help prevent the commonly associated subtrochanteric pathologic fracture. In a patient without a known primary malignancy, biopsy should be carried out before therapy. We describe four patients with isolated avulsion fracture of the lesser trochanter due to metastatic carcinoma. Radiologists should be aware of this lesion because its presence has a decisive effect on therapy.

Allergic fungal sinusitis due to Curvularia lunata.

The clinical and pathologic features of allergic fungal sinusitis caused by Curvularia lunata, as seen in two patients, are described. The findings are identical to those of allergic aspergillus sinusitis. Patients have allergies, nasal polyposis, and, occasionally, eosinophilia. Radiographs show opacification of multiple sinuses without bone destruction. Surgical specimens consist of polyps and inspissated, mucoid material. Diagnostic microscopic features, termed "allergic mucin," include eosinophils, numerous Charcot-Leyden crystals, and hyphae embedded in pools of mucus. The recognition of allergic mucin may be impeded by extensive degranulation and fragmentation of the eosinophils. In addition, the fragments of mucin exhibit large, poorly stained central areas, probably due to incomplete penetration by the fixative. Eosinophils are easier to recognize in well-fixed areas. Electron microscopy, though not of diagnostic necessity, confirms the eosinophilic nature of the infiltrate. It is important that surgical pathologists recognize this distinctive clinicopathologic entity and recommend appropriate cultures.

Two monoclonal-based assays for carcinoembryonic antigen compared.

Monoclonal antibody-based methods can provide clinically different impressions for some patients than does an earlier method involving a conventional antiserum. Therefore, performance of two commercial double-monoclonal-antibody methods for carcinoembryonic antigen (CEA) were studied further, those of Abbott Diagnostics and Roche Diagnostic Systems. The two methods showed similar precision. Total CVs over 20 days at three concentrations were 16, 6, and 6% in the Roche assay, and 15, 8, and 7% in the Abbott assay (n = 20). Within-run CVs for quality-control levels 1, 2, and 3, respectively, in the Roche assay were 14, 8, and 9%, and in the Abbott 15, 9, and 10% (n = 20). Mean CEA concentrations were consistently lower in the Roche assay than in the Abbott assay. Results of the two assays correlated significantly in patients with CEA-secreting carcinomas (r = 0.88), and in serial samples from cancer patients who had low, medium, or high CEA concentrations in their sera (r = 0.92 for all serial data). About 10% of values were false-positive (greater than 5.0 micrograms/L) by each of the two methods in 89 patients with various non-malignant conditions. The two methods appear to be more specific for tumor-associated CEA than are polyclonal antibody-based assays previously available from the two manufacturers.

Pleomorphic adenoma of the larynx.

A 40-year-old woman was hoarse for five months due to a pleomorphic adenoma in the false vocal cord. The peripheral, ulcerated portion of the tumor had undergone squamous metaplasia, and this was initially misdiagnosed as squamous cell carcinoma. For that reason, the patient received radiation treatment, but the tumor remained unchanged. It was then locally excised, and the patient was still free of disease 14 years later. This case illustrates the hazard of misinterpreting squamous metaplasia in pleomorphic adenoma, the resistance of this tumor to irradiation, and the satisfactory long-range response to local excision.

University of Virginia case conference. Macroamylase, macro creatine kinase, and other macroenzymes.

The importance of macroenzymes has become increasingly apparent in recent years (1,2). Macroamylase (EC 3.2.1.1) and macro CK (EC 2.7.3.2) are the macroenzymes most commonly noted in the clinical laboratory, and they are frequently responsible for diagnostic confusion. Several methods are available for the confirmation and analysis of macroenzymes, many of which require expensive equipment or complicated techniques. In this report we summarize two cases of macro creatine kinase and two cases of macroamylase that illustrate the clinical importance of recognizing these macroenzymes. We review the features of these macroenzymes, discuss their laboratory evaluation, and describe a simple method that we have used to detect the macroenzymes in these (and other) patients at our institution. Finally, we review the literature on other, less commonly observed macroenzymes in human blood. We stress (a) the impact of methodology on clinical impressions and (b) the importance of discussing laboratory observations with the patient's physician and communicating them to the patient's medical record in writing.

Prenatal diagnosis of Pena-Shokeir syndrome type 1.

This report describes the sonographic diagnosis of the Pena-Shokeir syndrome type 1 during the second trimester of a pregnancy which was electively terminated. The mother had previously delivered a macerated, hydropic infant with multiple congenital anomalies. The diagnosis was based on the recurrence of hydramnios and nonimmune hydrops in a fetus with normal chromosomes, normal amniotic fluid alpha-fetoprotein, normal fetal echocardiography, and lack of evidence of a lysosomal storage disease. These observations suggest that serial sonography during the second trimester in pregnancies at risk may allow for the prenatal diagnosis of the Pena-Shokeir syndrome type 1. Without further experience, it would not be prudent to suggest to couples at risk that the prenatal diagnosis of a recurrence can be assured with a high degree of accuracy.